NM_004168.4(SDHA):c.91C>T (p.Arg31Ter)
|
rs142441643
|
0.00025
|
NM_003000.3(SDHB):c.418G>T (p.Val140Phe)
|
rs267607032
|
0.00003
|
NM_003000.3(SDHB):c.79C>T (p.Arg27Ter)
|
rs74315369
|
0.00003
|
NM_004168.4(SDHA):c.223C>T (p.Arg75Ter)
|
rs781764920
|
0.00003
|
NM_000321.3(RB1):c.1981C>T (p.Arg661Trp)
|
rs137853294
|
0.00002
|
NM_004168.4(SDHA):c.1765C>T (p.Arg589Trp)
|
rs387906780
|
0.00002
|
NM_003000.3(SDHB):c.268C>T (p.Arg90Ter)
|
rs74315366
|
0.00001
|
NM_003000.3(SDHB):c.423+1G>A
|
rs398122805
|
0.00001
|
NM_003000.3(SDHB):c.689G>A (p.Arg230His)
|
rs587782604
|
0.00001
|
NM_003000.3(SDHB):c.725G>A (p.Arg242His)
|
rs74315368
|
0.00001
|
NM_004168.4(SDHA):c.1753C>T (p.Arg585Trp)
|
rs200397144
|
0.00001
|
NC_000001.10:g.17375249_17390927del15679
|
|
|
NC_000001.10:g.17376556_17396932del20377
|
|
|
NM_000321.3(RB1):c.-189G>T
|
rs387906520
|
|
NM_000321.3(RB1):c.-198G>A
|
rs387906521
|
|
NM_000321.3(RB1):c.1049+1G>T
|
rs587776782
|
|
NM_000321.3(RB1):c.1072C>T (p.Arg358Ter)
|
rs121913301
|
|
NM_000321.3(RB1):c.1215+1G>A
|
rs587776783
|
|
NM_000321.3(RB1):c.1333C>T (p.Arg445Ter)
|
rs3092891
|
|
NM_000321.3(RB1):c.1436ACA[1] (p.Asn480del)
|
rs587776788
|
|
NM_000321.3(RB1):c.1666C>T (p.Arg556Ter)
|
rs121913304
|
|
NM_000321.3(RB1):c.1700C>T (p.Ser567Leu)
|
rs137853292
|
|
NM_000321.3(RB1):c.1760_1769del (p.Glu587fs)
|
rs587776784
|
|
NM_000321.3(RB1):c.1818T>A (p.Tyr606Ter)
|
rs137853297
|
|
NM_000321.3(RB1):c.1949_1957del (p.Phe650_Lys653delinsTer)
|
rs587776785
|
|
NM_000321.3(RB1):c.1960+2T>C
|
rs587776780
|
|
NM_000321.3(RB1):c.2023G>T (p.Glu675Ter)
|
rs137853295
|
|
NM_000321.3(RB1):c.2134T>C (p.Cys712Arg)
|
rs137853296
|
|
NM_000321.3(RB1):c.2211G>A (p.Glu737=)
|
rs587776787
|
|
NM_000321.3(RB1):c.2212-1G>A
|
rs587776786
|
|
NM_000321.3(RB1):c.2244del (p.Glu748fs)
|
rs587776781
|
|
NM_000321.3(RB1):c.2359C>T (p.Arg787Ter)
|
rs137853293
|
|
NM_000321.3(RB1):c.2490-1398A>G
|
rs587776791
|
|
NM_000321.3(RB1):c.2520+1del
|
rs587776779
|
|
NM_000321.3(RB1):c.43_65dup (p.Pro23fs)
|
rs587776790
|
|
NM_000321.3(RB1):c.607+1G>T
|
rs587776789
|
|
NM_000321.3(RB1):c.979_1033dup (p.Thr345delinsLysLysTer)
|
rs1555285429
|
|
NM_000546.6(TP53):c.475_481dup (p.Ala161fs)
|
rs863223301
|
|
NM_000546.6(TP53):c.854A>T (p.Glu285Val)
|
rs121912667
|
|
NM_001368894.2(PAX6):c.10+5G>C
|
rs587776572
|
|
NM_001368894.2(PAX6):c.424C>T (p.Arg142Cys)
|
rs121907918
|
|
NM_001368894.2(PAX6):c.655C>T (p.Gln219Ter)
|
rs121907924
|
|
NM_003000.3(SDHB):c.(-151_-1)_(72+1_73-1)del
|
|
|
NM_003000.3(SDHB):c.136C>G (p.Arg46Gly)
|
rs74315370
|
|
NM_003000.3(SDHB):c.201-4429_287-934del
|
|
|
NM_003000.3(SDHB):c.302G>A (p.Cys101Tyr)
|
rs74315371
|
|
NM_003000.3(SDHB):c.395A>C (p.His132Pro)
|
rs74315372
|
|
NM_003000.3(SDHB):c.590C>G (p.Pro197Arg)
|
rs74315367
|
|
NM_003000.3(SDHB):c.591del (p.Ser198fs)
|
rs1060503757
|
|
NM_003000.3(SDHB):c.716_719del (p.Ser239fs)
|
rs587781266
|
|
NM_003072.5(SMARCA4):c.2617-3C>G
|
rs587777463
|
|
NM_003072.5(SMARCA4):c.3239G>A (p.Gly1080Asp)
|
rs587777464
|
|
NM_003072.5(SMARCA4):c.3533G>A (p.Trp1178Ter)
|
rs587777460
|
|
NM_003072.5(SMARCA4):c.3565C>T (p.Arg1189Ter)
|
rs267607070
|
|
NM_003072.5(SMARCA4):c.4170+1G>A
|
rs587777461
|
|
NM_003072.5(SMARCA4):c.643C>T (p.Gln215Ter)
|
rs587777462
|
|
NM_017583.6(TRIM44):c.463G>A (p.Gly155Arg)
|
rs886039241
|
|
NM_017841.4(SDHAF2):c.232G>A (p.Gly78Arg)
|
rs113560320
|
|
RB1, 5-BP DEL, EX8
|
|
|